Medical Glossary

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19186
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Anemia and triphalangeal thumbs




Anemia and triphalangeal thumbs

See: Aase-Smith syndrome II.

RELATED TERMS
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Syndrome
A grouping of signs and symptoms, based on their frequent co-occurrence, that may suggest a common underlying pathogenesis, course, familial pattern, or treatment selection.



SIMILAR TERMS
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Anemia
Anemia is a condition in which a deficiency in the size or number of erythrocytes (red blood cells) or the amount of hemoglobin they contain limits the exchange of oxygen and carbon dioxide between the blood and the tissue cells. Most anemias are caused by a lack of nutrients required for normal erythrocyte synthesis, principally iron, vitamin B-12, and folic acid. Others result from a variety of conditions, such as hemorrhage, genetic abnormalities, chronic disease states or drug toxicity.

Anemia, Addison
A blood disorder caused by a lack of vitamin B12. Patients who have this disorder do not produce the substance in the stomach that allows the body to absorb vitamin B12. This substance is called intrinsic factor (IF).

Anemia, addisonian
A blood disorder caused by a lack of vitamin B12. Patients who have this disorder do not produce the substance in the stomach that allows the body to absorb vitamin B12. This substance is called intrinsic factor (IF).

Anemia, aplastic
See: Aplastic anemia.

Anemia, congenital
See: Congenital anemia.

Anemia, Fanconi
See Fanconi anemia.

Anemia, iron deficiency
The most common known form of nutritional disorder in the world, iron deficiency results in anemia because iron is necessary to make hemoglobin, key molecule in red blood cells responsible for the transport of oxygen. In iron deficiency anemia, the red cells appear abnormal and are unusually small (microcytic) and pale (hypochromic). The pallor of the red cells reflects their low hemoglobin content.

Anemia, Mediterranean
Better known today as thalassemia (or as beta thalassemia or thalassemia major). The clinical picture of this important type of anemia was first described in 1925 by the pediatrician Thomas Benton Cooley. The name thalassemia was coined by the Nobel Prize winning pathologist George Whipple and the professor of pediatrics Wm Bradford at U. of Rochester because thalassa in Greek means the sea (like the Mediterranean Sea) + -emia means in the blood so thalassemia means sea in the blood. Thalassemia is not just one disease. It is a complex contingent of genetic (inherited) disorders all of which involve underproduction of hemoglobin, the indispensable molecule in red blood cells that carries oxygen. The globin part of normal adult hemoglobin is made up of 2 alpha and 2 beta polypeptide chains. In beta thalassemia, there is a mutation (change) in both beta globin chains leading to underproduction (or absence) of beta chains, underproduction of hemoglobin, and profound anemia. The gene for beta thalassemia is relatively frequent in people of Mediterranean origin (for example, from Italy and Greece). Children with this disease inherit one gene for it from each parent. The parents are carriers (heterozygotes) with just one thalassemia gene, are said to have thalassemia minor, and are essentially normal. Their children affected with beta thalassemia seem entirely normal at birth because at birth we still have predominantly fetal hemoglobin which does not contain beta chains. The anemia surfaces in the first few months after birth and becomes progressively more severe leading to pallor and easy fatigability, failure to thrive (grow), bouts of fever (due to infections) and diarrhea. Treatment based on blood transfusions is helpful but not curative. Gene therapy will, it is hoped, be applicable to this disease.

Anemia, pernicious
A blood disorder caused by a lack of vitamin B12. Patients who have this disorder do not produce the substance in the stomach that allows the body to absorb vitamin B12. This substance is called intrinsic factor (IF).

Anemia, refractory
Anemia (a shortage of red blood cells) unresponsive to treatment.

Anemia, sickle cell
A genetic blood disease due to the presence of an abnormal form of hemoglobin, namely hemoglobin S. Hemoglobin is the molecule in red blood cells that transports oxygen from the lungs to the farthest reaches of the body.

Anemia, sideroblastic, and spinocerebellar ataxia
ASAT. See: Pagon syndrome.

Anemic
Relating to anemia, the condition of having less than the normal number of red blood cells or less than the normal quantity of hemoglobin in the blood. The oxygen-carrying capacity of the blood is, therefore, decreased.



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Androgen ablation
Treatment designed to suppress or block the production of male hormones. Androgen suppression can be achieved by surgical removal of the testicles, by taking female sex hormones, or by taking other drugs called antiandrogens. Also called androgen suppression.

Androgen insensitivity syndrome, complete
"A genetic disorder that makes XY fetuses insensitive (unresponsive) to androgens (male hormones). Instead, they are born looking externally like normal girls. Internally, there is a short blind-pouch vagina and no uterus, fallopian tubes or ovaries. There are testes in the abdomen or the inguinal canal. The complete androgen insensitivity syndrome is usually detected at puberty when a girl should but does not begin to menstruate. Many of the girls with the syndrome have no pubic or axillary (armpit) hair. They have luxuriant scalp hair without temporal (male-pattern) balding. They are sterile and cannot bear children. They are at high risk for osteoporosis and so should take estrogen replacement therapy. The gene for the syndrome is on the X chromosome in band Xq11-q12. The gene codes for the androgen receptor (also called the dihydrotestosterone receptor). This gene is mutant in the complete androgen insensitivity syndrome. Because of the mutation, the cells cannot respond to androgen. If a woman has the mutation on one of her X chromosomes, the risk for each of her XY offspring to receive the gene and have the syndrome is one-half (50%). There are also partial androgen insensitivity syndromes. They usually result in micropenis with hypospadias and gynecomastia (male breast development). These conditions (which include a disorder called Reifenstein syndrome) are also due to mutations in the androgen receptor gene. The complete androgen insensitivity syndrome was once referred to as testicular feminization (TFM). The name ""complete androgen insensitivity syndrome"" is scientifically accurate and is more satisfactory to patients and their families."

Androgen suppression
Treatment designed to suppress or block the production of male hormones. Androgen suppression can be achieved by surgical removal of the testicles, by taking female sex hormones, or by taking other drugs called antiandrogens. Also called androgen ablation.

Androgen suppression therapy
See: Androgen suppression.

Androgenic
" Pertaining to the development of male characteristics, including body hair, the genital organs and muscle mass. ""Androgenic"" is the adjective form of the noun ""androgen,"" a word referring to any of the male hormones, including testosterone and androsterone. Androgenic development -- that is, the development of male characteristics -- begins in puberty, the time when a person becomes physically capable of producing offspring. In males, this time most commonly occurs between ages 12 and 14. A deepening voice is one of the signs of androgenic activity. Androgen is produced in males by the testes, the two globe-shaped reproductive organs below the penis, and by the adrenal glands, two small hormone-producing organs that each sit atop a kidney. Androgen is also produced in females in the adrenal glands. Overproduction of androgen can generate some male characteristics in women and exaggerate male characteristics in men. ""Androgenic"" is derived from the Greek words ""andros"" (man) and ""genein"" (to produce)."" Related words include ""androgynous"" (having both male and female characteristics), ""andrology"" (the study of health in males), ""androphobia"" (fear of men) and ""android"" (in science fiction, a manlike robot)."

Anemia and triphalangeal thumbs

Anemia, Addison
A blood disorder caused by a lack of vitamin B12. Patients who have this disorder do not produce the substance in the stomach that allows the body to absorb vitamin B12. This substance is called intrinsic factor (IF).

Anemia, addisonian
A blood disorder caused by a lack of vitamin B12. Patients who have this disorder do not produce the substance in the stomach that allows the body to absorb vitamin B12. This substance is called intrinsic factor (IF).

Anemia, aplastic
See: Aplastic anemia.

Anemia, congenital
See: Congenital anemia.

Anemia, Fanconi
See Fanconi anemia.

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This dictionary contains 19186 terms.







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